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Variant : CV448255 (NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)) Homo sapiens

Symbol: CV448255
Name: NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)
Condition: Nephronophthisis [RCV000539655]
Clinical Significance: benign
Last Evaluated: 07/28/2017
Review Status: criteria provided, single submitter
Related Genes: NPHP4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_011724.2:g.133032C>T
NC_000001.11:g.5864440G>A
NC_000001.10:g.5924500G>A
NP_055917.1:p.Ala1298=
NM_001291593.2:c.2355C>T
NM_001291594.2:c.2358C>T
NM_015102.5:c.3894C>T
NM_015102.4:c.3894C>T
NR_111987.1:n.4709C>T
NP_001278522.1:p.Ala785=
NP_001278523.1:p.Ala786=
Position
Human AssemblyChrPosition (strand)Source
GRCh3815,864,440 - 5,864,440CLINVAR
GRCh3715,924,500 - 5,924,500CLINVAR
Cytogenetic Map11p36.31CLINVAR
Trait Synonyms: juvenile nephronophthisis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13499157
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.